The Retina Reference

Stickler Syndrome

This 26-year-old female was seen for Stickler syndrome. This genetic condition is autosomal dominant and can cause several problems such as joint pain, facial deformities, hearing loss and decreased vision. Differential diagnoses include Wagner syndrome and Marshall’s syndrome which are also caused by gene mutations. Patients with Stickler syndrome are at risk for vision loss due to retinal detachments that can occur early on in childhood or young adulthood. This patient reported that she has had a retinal detachment in the right eye before and was treated with laser therapy. On examination, her visual acuity was 20/25 in the right eye and 20/30 in the left with no new breaks or retinal tears. White arrows point to where laser was previously administered in her right eye. She also had laser in her left eye, however it was not for a retinal detachment but for lattice degeneration, a condition that can also develop tears and breaks (yellow arrow). Her optical coherence tomography images show thinning of the choroid that is consistent with her high myopia (red arrows). There is currently no cure for stickler syndrome but surgical treatment can help prevent vision loss. She was asked to return in a year or earlier if she experienced new flashes of light or floaters.